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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-31664357-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31664357&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31664357,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000375896.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "NM_033177.4",
"protein_id": "NP_149417.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": "ENST00000375896.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "ENST00000375896.9",
"protein_id": "ENSP00000365060.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": "NM_033177.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "NM_001199237.1",
"protein_id": "NP_001186166.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "NM_001199238.1",
"protein_id": "NP_001186167.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "NM_001199239.1",
"protein_id": "NP_001186168.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "NM_001199240.1",
"protein_id": "NP_001186169.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "ENST00000375893.6",
"protein_id": "ENSP00000365057.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "ENST00000375895.6",
"protein_id": "ENSP00000365059.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "ENST00000375900.8",
"protein_id": "ENSP00000365065.4",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "ENST00000375906.5",
"protein_id": "ENSP00000365071.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "ENST00000458083.5",
"protein_id": "ENSP00000395307.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 122,
"cds_end": null,
"cds_length": 494,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "ENST00000445768.5",
"protein_id": "ENSP00000409349.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 151,
"cds_start": 122,
"cds_end": null,
"cds_length": 456,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "ENST00000456540.1",
"protein_id": "ENSP00000395484.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 88,
"cds_start": 122,
"cds_end": null,
"cds_length": 269,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_005249403.4",
"protein_id": "XP_005249460.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_006715204.2",
"protein_id": "XP_006715267.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_011514909.2",
"protein_id": "XP_011513211.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_011514910.2",
"protein_id": "XP_011513212.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_024446549.2",
"protein_id": "XP_024302317.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_047419350.1",
"protein_id": "XP_047275306.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro",
"transcript": "XM_047419351.1",
"protein_id": "XP_047275307.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 356,
"cds_start": 122,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"dbsnp": "rs3130618",
"frequency_reference_population": 6.840619e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84062e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4936590790748596,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.8848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.472,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375896.9",
"gene_symbol": "GPANK1",
"hgnc_id": 13920,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.122G>C",
"hgvs_p": "p.Arg41Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}